Thomson S A, Rasmussen S A, Zhang J, Wallace M R
Department of Pediatrics, Center for Mammalian Genetics, University of Florida College of Medicine, Gainesville, USA.
Hum Genet. 1999 Jul-Aug;105(1-2):171-3. doi: 10.1007/s004399900077.
Hereditary cylindromatosis (HC; MIM 132700) is an autosomal dominant condition characterized by benign skin appendage tumors most commonly on the scalp and face. Previously, the HC gene (CYLD1) was linked to chromosome 16q12-13, and tumors showed loss of heterozygosity (LOH), suggesting that CYLD1 is a tumor suppressor gene. Here we report a new multi-generation cylindromatosis family whose condition maps to that region, with 7/13 tumors showing LOH on 16q.